Associated Papers
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
He D et al.
Orphanet Journal of Rare Diseases, 2024
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.
Guo L et al.
European Journal of Human Genetics : Ejhg, 2022
35970914 (PubMed )
Supplement: 41431_2022_1171_MOESM3_ESM.xlsx › clinvar_20220413.list3.hg19_mul
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2022
Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.
Gao F et al.
Journal of Personalized Medicine, 2022
35330407 (PubMed )
Supplement: jpm-12-00407-s001.zip › Table_S2-Clinacal_and_genetic_analysis_of_13_cases_with_missense_variations.pdf
KBG syndrome.
Morel Swols D et al.
Orphanet Journal of Rare Diseases, 2017
29258554 (PubMed )
Supplement: 13023_2017_736_MOESM1_ESM.xlsx › Sheet1
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
Miyatake S et al.
Journal of Human Genetics, 2017
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